ClinVar Miner

Submissions for variant NC_000021.7:g.13636378_28138533dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alzheimer's disease and other cognitive disorders unit,Hospital Clínic de Barcelona_IDIBAPS RCV000148341 SCV000119897 pathogenic Alzheimer disease; Cerebral amyloid angiopathy, APP-related no assertion criteria provided research APP point mutations are a cause of early-onset Alzheimer''s disease (AD). The APP gene duplication alone or with flanking genes is the cause of early-onset AD with cerebral amyloid angiopathy.

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